Canonical Allele Identifier: CA382902423
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027718C>A , CM000673.2:g.119027718C>A GRCh38
NC_000011.9:g.118898428C>A , CM000673.1:g.118898428C>A GRCh37
NC_000011.8:g.118403638C>A NCBI36
NG_013331.1:g.8188G>T , LRG_187:g.8188G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.765G>T
ENST00000697845.1:n.689G>T
ENST00000697846.1:n.765G>T
ENST00000697847.1:n.765G>T
ENST00000697848.1:n.765G>T
ENST00000697849.1:n.1804G>T
ENST00000697850.1:n.765G>T
ENST00000697851.1:n.2125G>T
ENST00000638186.1:n.839G>T
ENST00000638360.1:n.671G>T
ENST00000638925.1:n.772G>T
ENST00000650539.1:n.941G>T
ENST00000330775.9:c.535G>T ENSP00000476242.2:p.Val179Phe
ENST00000357590.9:c.535G>T ENSP00000476176.2:p.Val179Phe
ENST00000524428.5:n.857G>T
ENST00000525039.5:n.959G>T
ENST00000525102.5:n.1293G>T
ENST00000525372.5:n.536G>T
ENST00000526275.5:n.1317G>T
ENST00000526626.6:n.498G>T
ENST00000527992.5:n.763G>T
ENST00000529510.5:n.399+476G>T
ENST00000530407.5:n.685G>T
ENST00000532085.1:n.3146G>T
ENST00000532888.6:n.831G>T
ENST00000538950.5:c.316G>T ENSP00000475991.2:p.Val106Phe
ENST00000545985.5:c.535G>T ENSP00000475241.2:p.Val179Phe
NM_001164277.1:c.535G>T , LRG_187t1:c.535G>T NP_001157749.1:p.Val179Phe
NM_001164278.1:c.535G>T NP_001157750.1:p.Val179Phe
NM_001164279.1:c.316G>T NP_001157751.1:p.Val106Phe
NM_001164280.1:c.535G>T NP_001157752.1:p.Val179Phe
NM_001467.5:c.535G>T NP_001458.1:p.Val179Phe
NM_001164278.2:c.535G>T NP_001157750.1:p.Val179Phe
NM_001164279.2:c.316G>T NP_001157751.1:p.Val106Phe
NM_001164280.2:c.535G>T NP_001157752.1:p.Val179Phe
NM_001467.6:c.535G>T NP_001458.1:p.Val179Phe
NM_001164277.2:c.535G>T MANE Select NP_001157749.1:p.Val179Phe